127 related articles for article (PubMed ID: 33122585)
1. The Use of B-Cell Polysome Profiling to Validate Novel RPL5 (uL18) and RPL26 (uL24) Variants in Diamond-Blackfan Anemia.
Ludlow A; George N; Glassford M; Udenberg K; Hannibal MC; Schwalm C; Scott K; Rothstein TL; Singh SA
J Pediatr Hematol Oncol; 2021 Apr; 43(3):e336-e340. PubMed ID: 33122585
[TBL] [Abstract][Full Text] [Related]
2. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-ribosomal RNA processing defect in diamond-blackfan anemia.
Gazda HT; Preti M; Sheen MR; O'Donohue MF; Vlachos A; Davies SM; Kattamis A; Doherty L; Landowski M; Buros C; Ghazvinian R; Sieff CA; Newburger PE; Niewiadomska E; Matysiak M; Glader B; Atsidaftos E; Lipton JM; Gleizes PE; Beggs AH
Hum Mutat; 2012 Jul; 33(7):1037-44. PubMed ID: 22431104
[TBL] [Abstract][Full Text] [Related]
3. Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations.
Errichiello E; Vetro A; Mina T; Wischmeijer A; Berrino E; Carella M; Romagnoli M; Sacchini P; Venesio T; Zecca M; Zuffardi O
Blood Cells Mol Dis; 2017 May; 64():38-44. PubMed ID: 28376382
[TBL] [Abstract][Full Text] [Related]
4. HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
O'Donohue MF; Da Costa L; Lezzerini M; Unal S; Joret C; Bartels M; Brilstra E; Scheijde-Vermeulen M; Wacheul L; De Keersmaecker K; Vereecke S; Labarque V; Saby M; Lefevre SD; Platon J; Montel-Lehry N; Laugero N; Lacazette E; van Gassen K; Houtkooper RH; Simsek-Kiper PO; Leblanc T; Yarali N; Cetinkaya A; Akarsu NA; Gleizes PE; Lafontaine DLJ; MacInnes AW
Blood; 2022 May; 139(21):3111-3126. PubMed ID: 35213692
[TBL] [Abstract][Full Text] [Related]
5. Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia.
Konno Y; Toki T; Tandai S; Xu G; Wang R; Terui K; Ohga S; Hara T; Hama A; Kojima S; Hasegawa D; Kosaka Y; Yanagisawa R; Koike K; Kanai R; Imai T; Hongo T; Park MJ; Sugita K; Ito E
Haematologica; 2010 Aug; 95(8):1293-9. PubMed ID: 20378560
[TBL] [Abstract][Full Text] [Related]
6. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Gazda HT; Sheen MR; Vlachos A; Choesmel V; O'Donohue MF; Schneider H; Darras N; Hasman C; Sieff CA; Newburger PE; Ball SE; Niewiadomska E; Matysiak M; Zaucha JM; Glader B; Niemeyer C; Meerpohl JJ; Atsidaftos E; Lipton JM; Gleizes PE; Beggs AH
Am J Hum Genet; 2008 Dec; 83(6):769-80. PubMed ID: 19061985
[TBL] [Abstract][Full Text] [Related]
7. Identification of mutations in the ribosomal protein L5 (RPL5) and ribosomal protein L11 (RPL11) genes in Czech patients with Diamond-Blackfan anemia.
Cmejla R; Cmejlova J; Handrkova H; Petrak J; Petrtylova K; Mihal V; Stary J; Cerna Z; Jabali Y; Pospisilova D
Hum Mutat; 2009 Mar; 30(3):321-7. PubMed ID: 19191325
[TBL] [Abstract][Full Text] [Related]
8. Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations.
Quarello P; Garelli E; Carando A; Brusco A; Calabrese R; Dufour C; Longoni D; Misuraca A; Vinti L; Aspesi A; Biondini L; Loreni F; Dianzani I; Ramenghi U
Haematologica; 2010 Feb; 95(2):206-13. PubMed ID: 19773262
[TBL] [Abstract][Full Text] [Related]
9. [Molecular mechanisms underlying the pathology of Diamond-Blackfan anemia].
Toki T; Ito E
Rinsho Ketsueki; 2015 Jul; 56(7):867-76. PubMed ID: 26251151
[TBL] [Abstract][Full Text] [Related]
10. Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.
Landowski M; O'Donohue MF; Buros C; Ghazvinian R; Montel-Lehry N; Vlachos A; Sieff CA; Newburger PE; Niewiadomska E; Matysiak M; Glader B; Atsidaftos E; Lipton JM; Beggs AH; Gleizes PE; Gazda HT
Hum Genet; 2013 Nov; 132(11):1265-74. PubMed ID: 23812780
[TBL] [Abstract][Full Text] [Related]
11. A novel mutation of ribosomal protein S10 gene in a Japanese patient with diamond-Blackfan anemia.
Yazaki M; Kamei M; Ito Y; Konno Y; Wang R; Toki T; Ito E
J Pediatr Hematol Oncol; 2012 May; 34(4):293-5. PubMed ID: 22510774
[TBL] [Abstract][Full Text] [Related]
12. Critical Diamond-Blackfan anemia due to ribosomal protein S19 missense mutation.
Ozono S; Mitsuo M; Noguchi M; Nakagawa S; Ueda K; Inada H; Ohga S; Ito E
Pediatr Int; 2016 Sep; 58(9):930-3. PubMed ID: 27601194
[TBL] [Abstract][Full Text] [Related]
13. Loss of function mutations in RPL27 and RPS27 identified by whole-exome sequencing in Diamond-Blackfan anaemia.
Wang R; Yoshida K; Toki T; Sawada T; Uechi T; Okuno Y; Sato-Otsubo A; Kudo K; Kamimaki I; Kanezaki R; Shiraishi Y; Chiba K; Tanaka H; Terui K; Sato T; Iribe Y; Ohga S; Kuramitsu M; Hamaguchi I; Ohara A; Hara J; Goi K; Matsubara K; Koike K; Ishiguro A; Okamoto Y; Watanabe K; Kanno H; Kojima S; Miyano S; Kenmochi N; Ogawa S; Ito E
Br J Haematol; 2015 Mar; 168(6):854-64. PubMed ID: 25424902
[TBL] [Abstract][Full Text] [Related]
14. Functionally impaired RPL8 variants associated with Diamond-Blackfan anemia and a Diamond-Blackfan anemia-like phenotype.
Lebaron S; O'Donohue MF; Smith SC; Engleman KL; Juusola J; Safina NP; Thiffault I; Saunders CJ; Gleizes PE
Hum Mutat; 2022 Mar; 43(3):389-402. PubMed ID: 34961992
[TBL] [Abstract][Full Text] [Related]
15. Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemia.
Bhar S; Zhou F; Reineke LC; Morris DK; Khincha PP; Giri N; Mirabello L; Bergstrom K; Lemon LD; Williams CL; Toh Y; Elghetany MT; Lloyd RE; Alter BP; Savage SA; Bertuch AA
Hum Mutat; 2020 Nov; 41(11):1918-1930. PubMed ID: 32790018
[TBL] [Abstract][Full Text] [Related]
16. [Analysis of mutations of ribosomal protein genes in 21 cases of Diamond-Blackfan anemia].
Chen YM; Ruan M; Zou Y; Guo Y; Wang SC; Chen XJ; Zhang L; Liu TF; Zhu XF
Zhongguo Shi Yan Xue Ye Xue Za Zhi; 2012 Dec; 20(6):1414-8. PubMed ID: 23257444
[TBL] [Abstract][Full Text] [Related]
17. Clinical phenotype and genetic analysis of RPS19, RPL5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.
Delaporta P; Sofocleous C; Stiakaki E; Polychronopoulou S; Economou M; Kossiva L; Kostaridou S; Kattamis A
Pediatr Blood Cancer; 2014 Dec; 61(12):2249-55. PubMed ID: 25132370
[TBL] [Abstract][Full Text] [Related]
18. Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
Smetanina NS; Mersiyanova IV; Kurnikova MA; Ovsyannikova GS; Hachatryan LA; Bobrynina VO; Maschan MA; Novichkova GA; Lipton JM; Maschan AA
Pediatr Blood Cancer; 2015 Sep; 62(9):1597-600. PubMed ID: 25946618
[TBL] [Abstract][Full Text] [Related]
19. Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.
Steinberg-Shemer O; Keel S; Dgany O; Walsh T; Noy-Lotan S; Krasnov T; Yacobovich J; Quarello P; Ramenghi U; King MC; Shimamura A; Tamary H
J Pediatr Hematol Oncol; 2016 Oct; 38(7):e260-2. PubMed ID: 27258031
[TBL] [Abstract][Full Text] [Related]
20. Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.
Arbiv OA; Cuvelier G; Klaassen RJ; Fernandez CV; Robitaille N; Steele M; Breakey V; Abish S; Wu J; Sinha R; Silva M; Goodyear L; Jardine L; Lipton JH; Corriveau-Bourque C; Brossard J; Michon B; Ghemlas I; Waespe N; Zlateska B; Sung L; Cada M; Dror Y
Clin Genet; 2018 Feb; 93(2):320-328. PubMed ID: 29044489
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
